Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 22 | 41117194 | frameshift variant | CTCT/- | delins | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
1 | 1.000 | 0.120 | 22 | 41178931 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 22 | 41162784 | splice region variant | G/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 22 | 41172557 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 22 | 41177712 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 22 | 41176400 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 22 | 41176420 | frameshift variant | -/ATGT | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 22 | 41172631 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 22 | 41158483 | stop gained | T/A;C | snv | 3.2E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 22 | 41178337 | inframe deletion | CCAGTTCCAGCA/- | delins | 1.6E-03 | 1.7E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 22 | 41155015 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 22 | 41176250 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.240 | 22 | 41173768 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41141111 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41093071 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 22 | 41151998 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41152277 | frameshift variant | AAAGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41162733 | frameshift variant | AGAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41164055 | inframe deletion | TTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41166649 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41170490 | inframe deletion | ACCCAA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41170576 | splice region variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41177907 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41117728 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 41151890 | frameshift variant | CACAGAAG/- | delins | 0.700 | 0 |